Cellular and molecular basis of human genetic disorders

Cellular and molecular basis of human genetic disorders

Our laboratory is interested in the areas of brain disorders, hereditary hearing loss, and developmental disorders. To address questions in these areas, we use concepts and technologies of genetics, cell biology, genomics, and transcriptomics.  These studies are carried out employing cultured mammalian cells, genetically engineered mice, pluripotent stem cells,  and analysis of families affected with genetic disorders.  Major themes of the research being presently carried out are:

Functional characterization of microtubule-associated proteins in human brain disorders.

DNA- surveillance and  RNA-surveillance mechanisms and their malfunctioning in brain diseases.

Resolving gene-networks underlying cellular stress response in age-associated pathologies.

Genomic architecture of non-syndromic, severe-to-profound deafness.

Molecular and cell biological studies of newly identified genes underlying human epileptic disorders, and hereditary deafness.  

Single cell biology and spatial- transcriptomics of neurological and developmental disorders.